MCID: AMY098
MIFTS: 33

Amyotrophy, Monomelic

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Amyotrophy, Monomelic

MalaCards integrated aliases for Amyotrophy, Monomelic:

Name: Amyotrophy, Monomelic 57 70
Monomelic Amyotrophy 20 53 58 17
Benign Focal Amyotrophy 20 53 58
Hirayama Disease 57 20 58
Juvenile Muscular Atrophy of Distal Upper Extremity 20 58
Juvenile Muscular Atrophy of the Distal Upper Limb 58
Spinal Muscular Atrophy, Juvenile, Nonprogressive 57
Spinal Muscular Atrophy Juvenile Nonprogressive 20
Juvenile Muscular Atrophy of Distal Upper Limb 20
Hirayama Syndrome 53
Jmadue 58

Characteristics:

Orphanet epidemiological data:

58
monomelic amyotrophy
Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
insidious onset
most cases are sporadic
average age at onset 18 years (range 15 to 25 years)
more common in males
generally benign disorder
mode of inheritance is uncertain

Inheritance:
isolated cases


HPO:

31
amyotrophy, monomelic:
Inheritance sporadic
Onset and clinical course insidious onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 602440
MESH via Orphanet 45 C538253
ICD10 via Orphanet 33 G12.8
UMLS via Orphanet 71 C1865384
Orphanet 58 ORPHA65684
MedGen 41 C1865384
UMLS 70 C1865384

Summaries for Amyotrophy, Monomelic

NINDS : 53 Monomelic amyotrophy (MMA) is characterized by progressive degeneration and loss of motor neurons, the nerve cells in the brain and spinal cord that are responsible for controlling voluntary muscles. It is characterized by weakness and wasting in a single limb, usually an arm and hand rather than a foot and leg. There is no pain associated with MMA. While some physicians contend that mild sensory loss may be associated with this disease, many experts suggest that such symptoms actually indicate a cause other than MMA. MMA occurs in males between the ages of 15 and 25. Onset and progression are slow. MMA is seen most frequently in Asia, particularly in Japan and India; it is much less common in North America. In most cases, the cause is unknown, although there have been a few published reports linking MMA to traumatic or radiation injury. There are also familial forms of MMA. Diagnosis is made by physical exam and medical history. Electromyography (EMG), a special recording technique that detects electrical activity in muscles, shows a loss of the nerve supply, or denervation, in the affected limb; MRI and CT scans may show muscle atrophy. People believed to have MMA should be followed by a neuromuscular disease specialist for a number of months to make certain that no signs of other motor neuron diseases develop.

MalaCards based summary : Amyotrophy, Monomelic, also known as monomelic amyotrophy, is related to o'sullivan-mcleod syndrome and muscular atrophy. An important gene associated with Amyotrophy, Monomelic is CEP126 (Centrosomal Protein 126). Affiliated tissues include spinal cord and skin, and related phenotypes are muscle weakness and emg abnormality

GARD : 20 Monomelic amyotrophy (MMA) is a rare disease that causes muscle weakness in the upper extremities. MMA affects the lower motor neurons. Lower motor neurons are cells that help communicate information from the brain to the muscles that are involved in movement ( skeletal muscles ). Specifically, monomelic amyotrophy causes weakness and loss of muscle mass in the arms and fingers. Symptoms of the disease typically begin between the ages of 14-25 years-old. The disease is most common in Asia, especially in Japan and India. Males are more likely to develop the disease than females. The exact cause of monomelic amyotrophy is unknown. It is possible that the disease is caused by movement of the sac that surrounds the spinal cord due to repeated downward movement (flexion) of the neck. Monomelic amyotrophy can sometimes run in families, but it is not thought to be caused by a specific genetic change. Diagnosis of the disease is based on imaging studies and electromyography (EMG) consistent with the disease. Treatment options may include muscle strengthening exercises and neck bracing.

OMIM® : 57 Monomelic amyotrophy, also known as Hirayama disease, is characterized by insidious onset of weakness and wasting of the muscles of the hand and forearm. It is usually unilateral, but can be bilateral. It occurs most commonly as a sporadic condition, is most common in young men, and follows a relatively benign course after a few years of progression (Nalini et al., 2004; Misra et al., 2005). (602440) (Updated 20-May-2021)

Wikipedia : 73 Monomelic amyotrophy (MMA), is a rare motor neuron disease first described in 1959 in Japan. Its... more...

Related Diseases for Amyotrophy, Monomelic

Diseases related to Amyotrophy, Monomelic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 o'sullivan-mcleod syndrome 11.2
2 muscular atrophy 10.8
3 motor neuron disease 10.6
4 respiratory allergy 10.4
5 spinal muscular atrophy 10.4
6 tremor 10.4
7 amyotrophic lateral sclerosis 1 10.4
8 lateral sclerosis 10.4
9 spinal cord injury 10.2
10 poliomyelitis 10.2
11 candidiasis, familial, 1 10.1
12 ige responsiveness, atopic 10.1
13 syringomyelia, noncommunicating isolated 10.1
14 syringomyelia 10.1
15 autonomic dysfunction 10.1
16 paresthesia 10.1
17 anterior horn cell disease 10.1
18 charcot-marie-tooth hereditary neuropathy 10.1
19 chiari malformation 10.1
20 mcleod syndrome 10.0
21 west nile virus 10.0
22 cyanosis, transient neonatal 10.0
23 paralytic poliomyelitis 10.0
24 respiratory failure 10.0
25 polyneuropathy 10.0
26 myelitis 10.0
27 seminoma 10.0
28 demyelinating polyneuropathy 10.0
29 47,xyy 10.0
30 multifocal motor neuropathy 10.0
31 rare genetic deafness 10.0
32 carpal tunnel syndrome 9.9
33 cervical vertebral dysplasia 9.9
34 immunoglobulin a deficiency 1 9.9
35 charge syndrome 9.9
36 moyamoya disease 1 9.9
37 epilepsy, myoclonic juvenile 9.9
38 allergic rhinitis 9.9
39 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.9
40 scoliosis 9.9
41 quadriplegia 9.9
42 epilepsy 9.9
43 early myoclonic encephalopathy 9.9
44 progressive muscular atrophy 9.9
45 demyelinating disease 9.9
46 ischemia 9.9
47 neuromuscular disease 9.9
48 rhinitis 9.9
49 ulnar neuropathy 9.9
50 axonal neuropathy 9.9

Graphical network of the top 20 diseases related to Amyotrophy, Monomelic:



Diseases related to Amyotrophy, Monomelic

Symptoms & Phenotypes for Amyotrophy, Monomelic

Human phenotypes related to Amyotrophy, Monomelic:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
2 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
3 distal upper limb amyotrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007149
4 abnormality of peripheral nerve conduction 58 31 frequent (33%) Frequent (79-30%) HP:0003134
5 degeneration of anterior horn cells 58 31 frequent (33%) Frequent (79-30%) HP:0002398
6 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
7 abnormality of the immune system 58 31 occasional (7.5%) Occasional (29-5%) HP:0002715
8 fasciculations 58 31 occasional (7.5%) Occasional (29-5%) HP:0002380
9 abnormality of movement 58 Occasional (29-5%)
10 abnormality of the upper limb 58 Very frequent (99-80%)
11 upper limb muscle weakness 31 HP:0003484
12 cold paresis 31 HP:0031372
13 cervical spinal cord atrophy 31 HP:0010873
14 emg: neuropathic changes 31 HP:0003445
15 interosseus muscle atrophy 31 HP:0007181

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
muscle weakness restricted to the upper limb
muscle atrophy restricted to the upper limb
interosseus muscles involved
dorsal and flexor muscles of the forearm are involved
amyotrophy affects c5 to t1 myotomes
more

Clinical features from OMIM®:

602440 (Updated 20-May-2021)

Drugs & Therapeutics for Amyotrophy, Monomelic

Search Clinical Trials , NIH Clinical Center for Amyotrophy, Monomelic

Genetic Tests for Amyotrophy, Monomelic

Anatomical Context for Amyotrophy, Monomelic

MalaCards organs/tissues related to Amyotrophy, Monomelic:

40
Spinal Cord, Skin

Publications for Amyotrophy, Monomelic

Articles related to Amyotrophy, Monomelic:

(show top 50) (show all 107)
# Title Authors PMID Year
1
Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy. 61 57
22264561 2012
2
Familial monomelic amyotrophy: a case report from India. 57 61
15140613 2004
3
Monomelic amyotrophy in siblings. 57 61
1878104 1991
4
Hirayama disease associated with a severe rhythmic movement disorder involving neck flexions. 57
15851753 2005
5
A clinical, magnetic resonance imaging, and survival motor neuron gene deletion study of Hirayama disease. 57
15642858 2005
6
Hirayama disease: description of an Italian case. 57
15221630 2004
7
Benign monomelic amyotrophies of upper and lower limb are not associated to deletions of survival motor neuron gene. 57
8880702 1996
8
Chronic segmental spinal muscular atrophy of upper extremities in identical twins. 57
2300241 1990
9
Benign juvenile focal muscular atrophy of upper extremities--a familial case. 57
3681339 1987
10
Focal cervical poliopathy causing juvenile muscular atrophy of distal upper extremity: a pathological study. 57
3559609 1987
11
Juvenile type of distal and segmental muscular atrophy of upper extremities. 57
727722 1978
12
[Juvenile non-progressive muscular atrophy localized in the hand and forearm--observations in 38 cases]. 57
4674765 1972
13
Broadening the clinical spectrum of FUS mutations: a case with monomelic amyotrophy with a late progression to amyotrophic lateral sclerosis. 61
33001405 2021
14
Benign monomelic amyotrophy of lower limb in a cohort of chinese patients. 61
33650811 2021
15
Monomelic Amyotrophy (Hirayama Disease): A Rare Case Report and Literature Review. 61
33082767 2020
16
Early Diagnosed Hirayama Disease with Unusual Symptoms Improved by Steroid Pulse Therapy. 61
32434017 2020
17
Teaching NeuroImages: Hopkins syndrome: A rare differential diagnosis of neurogenic monomelic amyotrophy. 61
32041728 2020
18
Clinical evaluation of a 31-year-old woman with crural monomelic amyotrophy. 61
31998489 2020
19
Hirayama's Disease in a Young Male: A Rare Case Report. 61
31890406 2019
20
Benign monomelic amyotrophy with lower limb involvement in an adult: A case report. 61
29879014 2018
21
Cortical function and corticomotoneuronal adaptation in monomelic amyotrophy. 61
28624492 2017
22
Bimelic symmetric Hirayama disease: Spectrum of magnetic resonance imaging findings and comparative evaluation with classical monomelic amyotrophy and other motor neuron disease. 61
29114369 2017
23
Reverse split hand syndrome: Dissociated intrinsic hand muscle atrophy pattern in Hirayama disease/brachial monomelic amyotrophy. 61
27575868 2017
24
Hirayama disease (monomelic amyotrophy) clinically confused for carpal tunnel syndrome. 61
28579784 2017
25
An early description of monomelic amyotrophy: An excerpt from the diaries of Dr. Charles I Smith (1830-1880) in Bangalore, Southern India. 61
28084229 2017
26
Monomelic amyotrophy in cervical myelopathy associated with anterior dural sac displacement induced by neck flexion. 61
26946496 2016
27
Monomelic amyotrophy with proximal upper limb involvement: a case report. 61
26983673 2016
28
Hirayama Disease: A Rare Disease with Unusual Features. 61
28097028 2016
29
Clinical profile of Monomelic Amyotrophy (MMA) and role of persistent viral infection. 61
26671077 2015
30
Split Hand Associated With Monomelic Amyotrophy: A Challenging Diagnosis. 61
26301379 2015
31
Hirayama Disease: Escaping From the Quotidian Imaging. 61
26436018 2015
32
Monomelic amyotrophy (hirayama disease) with upper motor neuron signs: a case report. 61
25750881 2015
33
Clinical reasoning: transient cervical cord swelling in monomelic amyotrophy. 61
25688153 2015
34
[A case of true neurogenic thoracic outlet syndrome accompanied by an aberrant right subclavian artery]. 61
25786751 2015
35
Distal bimelic amyotrophy (DBMA): Phenotypically distinct but identical on cervical spine MR imaging with brachial monomelic amyotrophy/Hirayama disease. 61
25967543 2015
36
Monomelic amyotrophy: clinical profile and natural history of 279 cases seen over 35 years (1976-2010). 61
24853410 2014
37
Clinical reasoning: transient cervical cord swelling in monomelic amyotrophy. 61
25092931 2014
38
Clinical improvement of monomelic amyotrophy after avoidance of sustained neck flexion. 61
24872219 2014
39
Hirayama disease, a rare cause of posture related cord compression: a case report from radiological perspective. 61
24392537 2013
40
A Portuguese case of Hirayama disease. 61
24165502 2013
41
Efficacy of anterior cervical decompression and fusion procedures for monomelic amyotrophy treatment: a prospective randomized controlled trial: clinical article. 61
23930718 2013
42
Hirayama's Disease - A Rare Case Report with Review of Literature. 61
27298910 2013
43
Nosology of juvenile muscular atrophy of distal upper extremity: from monomelic amyotrophy to Hirayama disease--Indian perspective. 61
24063005 2013
44
A proposal for the definition of Hirayama disease and monomelic amyotrophy. 61
22596017 2012
45
A case of monomelic amyotrophy of the upper limb: MRI findings and the implication on its pathogenesis. 61
22622169 2012
46
The diagnostic criteria of benign monomelic amyotrophy. 61
23094549 2012
47
Monomelic amyotrophy is not always benign: a case report. 61
21344999 2011
48
Benign monomelic amyotrophy in a 7-year-old girl with proximal upper limb involvement: case report. 61
21980856 2011
49
[Effects of a proprioceptive neuromuscular facilitation program on benign monomelic amyotrophy]. 61
20669134 2010
50
Long-term follow-up of monomelic amyotrophy of the upper limb. 61
20385925 2010

Variations for Amyotrophy, Monomelic

Expression for Amyotrophy, Monomelic

Search GEO for disease gene expression data for Amyotrophy, Monomelic.

Pathways for Amyotrophy, Monomelic

GO Terms for Amyotrophy, Monomelic

Cellular components related to Amyotrophy, Monomelic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 8.62 CPLANE1 CEP126

Biological processes related to Amyotrophy, Monomelic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 8.96 CPLANE1 CEP126
2 cell projection organization GO:0030030 8.62 CPLANE1 CEP126

Sources for Amyotrophy, Monomelic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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